Two New G γ Chain Variants: Hb F-Clamart [γ17(A14)Lys→Asn] and Hb F-Ouled Rabah [γ19(B1)Asn→Lys]
2000; Taylor & Francis; Volume: 24; Issue: 1 Linguagem: Inglês
10.3109/03630260009002273
ISSN1532-432X
AutoresHenri Wajcman, Keren Borensztajn, J. Riou, Danièlle Promé, D. Hurtre, J. Bardakdjian, Danielle Lena‐Russo, Isabelle Amouroux, Rolande Ducrocq,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoTwo new fetal hemoglobin variants affecting the Gγ chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. the second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [Gγ19(B1)AsnLys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.
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